Kongenital muskeldystrofi grunnet LMNA mutasjon
Engelsk navn: Congenital muscular dystrophy due to LMNA mutation
Engelske synonym: L-CMD,LMNA-related congenital muscular dystrophy
Definisjon
A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.
Fra Orphanet
ORPHA: 157973
Klassifiseringsnivå: Disorder
ICD-10: G71.2
Mer informasjon
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